Linked Data
ClinVar Variation Id:
320128
ClinVar RCV Id:
RCV000301112
dbSNP Id:
rs193271947
gnomAD v2:
16-66543749-C-T
gnomAD v3:
16-66509846-C-T
gnomAD v4:
16-66509846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66509846C>T , CM000678.2:g.66509846C>T | GRCh38 |
| NC_000016.9:g.66543749C>T , CM000678.1:g.66543749C>T | GRCh37 |
| NC_000016.8:g.65101250C>T | NCBI36 |
| NG_016862.1:g.45567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.*2122G>A | ENSP00000299697.9:n.*2122G>A | |
| ENST00000451102.7:c.*2122G>A | ENSP00000414334.4:n.*2122G>A | |
| ENST00000544898.6:c.*2122G>A MANE Select | ENSP00000440898.2:n.*2122G>A | |
| ENST00000620035.5:c.*2217G>A | ENSP00000483833.2:n.*2217G>A | |
| ENST00000677166.1:n.109+2112G>A | ||
| ENST00000677319.1:c.110-1075G>A | ENSP00000503900.1:n.110-1075G>A | |
| ENST00000677535.1:c.1456+765G>A | ENSP00000502856.1:n.1456+765G>A | |
| ENST00000677753.1:n.81+3885G>A | ||
| ENST00000678015.1:c.*2122G>A | ENSP00000502959.1:n.*2122G>A | |
| ENST00000678099.1:c.1571G>A | ENSP00000504701.1:n.1571G>A | |
| ENST00000678219.1:c.1344+877G>A | ENSP00000504142.1:n.1344+877G>A | |
| ENST00000678282.1:n.81+3885G>A | ||
| ENST00000678861.1:c.1556G>A | ENSP00000502932.1:n.1556G>A | |
| ENST00000299697.11:c.*2122G>A | ENSP00000299697.8:n.*2122G>A | |
| ENST00000451102.6:c.*2122G>A | ENSP00000414334.3:n.*2122G>A | |
| ENST00000544898.5:c.*2122G>A | ENSP00000440898.2:n.*2122G>A | |
| ENST00000561527.5:n.258+3885G>A | ||
| ENST00000561728.1:c.148+3885G>A | ||
| ENST00000561905.2:c.54-1075G>A | ||
| ENST00000620035.4:c.*2122G>A | ENSP00000483833.1:n.*2122G>A | |
| NM_001172643.1:c.*2122G>A | NP_001166114.1:n.*2122G>A | |
| NM_001172644.1:c.*2122G>A | NP_001166115.1:n.*2122G>A | |
| NM_001172645.1:c.*2122G>A | NP_001166116.1:n.*2122G>A | |
| NM_001271934.1:c.*2122G>A | NP_001258863.1:n.*2122G>A | |
| NM_001271935.1:c.*2217G>A | NP_001258864.1:n.*2217G>A | |
| NM_001272050.1:c.*2122G>A | NP_001258979.1:n.*2122G>A | |
| NM_004614.4:c.*2122G>A | NP_004605.4:n.*2122G>A | |
| NR_073520.1:n.4199G>A | ||
| NM_001172644.2:c.*2122G>A | NP_001166115.1:n.*2122G>A | |
| NM_001271934.2:c.*2122G>A | NP_001258863.1:n.*2122G>A | |
| NM_001272050.2:c.*2122G>A | NP_001258979.1:n.*2122G>A | |
| NM_004614.5:c.*2122G>A MANE Select | NP_004605.4:n.*2122G>A | |
| NR_073520.2:n.3909G>A | ||
| NM_001172645.2:c.*2122G>A | NP_001166116.1:n.*2122G>A |